mitochondrial trifunctional protein deficiency 1 Disease Ontology Browser

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mitochondrial trifunctional protein deficiency 1 (DOID:0070619)
Alliance: disease page
Synonyms: MTPD1
Alt IDs: OMIM:609015
Definition: A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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